ORPHA:99067
Complete atrioventricular septal defect with ventricular hypoplasia
Synonyms: CAVC with ventricular hypoplasia · Complete AVSD with ventricular hypoplasia · Complete atrioventricular canal defect with ventricular hypoplasia · Complete atrioventricular septal defect with ventricular imbalance · Unbalanced complete atrioventricular canal
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Complete atrioventricular septal defect
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complete atrioventricular septal defect with ventricular hypoplasia | CAVC with ventricular hypoplasia · Complete AVSD with ventricular hypoplasia · Complete atrioventricular canal defect with ventricular hypoplasia · Complete atrioventricular septal defect with ventricular imbalance · Unbalanced complete atrioventricular canal |
| fr | Canal atrioventriculaire complet avec hypoplasie ventriculaire | CAVC avec hypoplasie ventriculaire · Communication atrioventriculaire complète avec hypoplasie ventriculaire · Communication atrioventriculaire complète déséquilibrée · Communication auriculo-ventriculaire complète avec hypoplasie ventriculaire · Communication auriculo-ventriculaire complète déséquilibrée · Défaut complet du septum atrioventriculaire avec hypoplasie ventriculaire · Défaut septal atrioventriculaire complet avec hypoplasie ventriculaire · Défaut septal atrioventriculaire complet déséquilibré · Défaut septal auriculo-ventriculaire complet avec hypoplasie ventriculaire |
| de | Kompletter atrioventrikulärer Kanal mit Ventrikelhypoplasie | CAVC-Ventrikelhypoplasie-Syndrom · Kompletter AV-Kanal-Defekt mit ventrikulärer Hypoplasie · Kompletter atrioventrikulärer Septumdefekt mit ventrikulärer Imbalance · Unbalancierte Form des atrioventrikulären Kanals |
| es | Ventrículo único con defecto del septo auriculoventricular completo | Canal aurículoventricular completo con disbalance ventricular · Canal aurículoventricular completo disbalanceado · Ventrículo único con CAVC · Ventrículo único con DSAV completo · Ventrículo único con canal auriculoventricular completo |
| it | CAVC - ipoplasia ventricolare | |
| nl | Compleet atrioventriculair septumdefect met ventrikelhypoplasie | CAVC met ventrikelhypoplasie · Compleet AVSD met ventrikelhypoplasie · Compleet atrioventriculair septumdefect met ongebalanceerd ventrikel · Compleet defect van atrioventriculair kanaal met ventrikelhypoplasie · Ongebalanceerd compleet atrioventriculair kanaal |
| pt | Canal auriculoventricular completo com hipoplasia ventricular | |
| pl | Całkowity kanał przedsionkowo-komorowy - hipoplazja komory | Całkowity kanał przedsionkowo-komorowy typu B · CAVC - hipoplazja komory · CAVC type B |
| cs | Syndrom kompletního AV kanálu s hypoplázií komory | CAVC typ B · Syndrom zahrnující CAVC a hypoplázii komory · Kompletní atrioventrikulární kanál, typ B |
| uk | Повна атріовентрикулярна комунікація з гіпоплазією шлуночків | CAVC з гіпоплазією шлуночків · Повна вада атріовентрикулярного каналу з гіпоплазією шлуночків · Повний дефект атріовентрикулярної перегородки з дисбалансом шлуночків · Повна AVSD з гіпоплазією шлуночків · Незбалансований повний атріовентрикулярний канал |
| zh | 完全性房室间隔缺损伴心室发育不良 | 完全性房室间隔缺损伴心室失衡 |
| tr | Ventriküler hipoplazi ile seyreden tam atriyoventriküler septal defekt | Ventriküler hipoplazili CAVC · Ventriküler hipoplazili tam AVSD · Dengeli olmayan tam atriyoventriküler kanal · Ventriküler hipoplazili tam atriyoventriküler kanal defekti · Ventriküler dengesizlik ile seyreden tam atriyoventriküler septal defekt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615779 | NTBT | validated | |
| ICD-10 | Q21.2 | NTBT | attributed | validated |
| MONDO | 0020407 | E | validated | |
| UMLS | C5680290 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1329Complete atrioventricular septal defect
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 18672102[PMID]_17643447[PMID] |
| GATA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 20581743[PMID] |
| CRELD1 | Major susceptibility factor in | Assessed | HGNC:14630 | ENSG00000163703 | 607170 | 3p25.3 | CRELD disulfide isomerase 1 | 12632326[PMID]_15096951[PMID] |
| NR2F2 | Major susceptibility factor in | Assessed | HGNC:7976 | ENSG00000185551 | 107773 | 15q26.2 | nuclear receptor subfamily 2 group F member 2 | 24702954[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99067
- This record as JSON: /data/d/99067.json